1965年Andreas Rett报告1例“脑萎缩与高氨血症”病儿,为世界各国第1例Rett氏综合征患者。此后日本、意大利及美国均陆续报道。本病以女孩得病、进行性智力下降、孤独症行为、双手刻板运动为临床特点。1984年在维也纳召开国际会议研讨本病时正式命名为Rett综合征。本文作者曾报告2例本病患儿为我国首次报道。本病迄今病因不明,仍在研究中。 1965 Andreas Rett reported 1 case of “brain atrophy and hyperammonemia” sick children, the world’s first case of Rett’s syndrome. Since then, Japan, Italy and the United States have reported. The disease is the girl’s disease, progressive decline in intelligence, autistic behavior, hands-stereotyped movement as a clinical feature. In 1984, an international conference was held in Vienna to study the disease officially named Rett syndrome. The author of this article has reported 2 cases of children with this disease for the first time reported in our country. The cause of the disease so far unknown, is still under study.